Living with Mosaic trisomy 17
A rare chromosome condition in which some cells have three copies of chromosome 17, with signs that vary a lot from person to person.
Understanding Mosaic trisomy 17
It is different from full trisomy 17, in which all cells have the extra copy. Few cases have been described, and most were found during pregnancy through amniocentesis. The type and severity of signs vary a lot because the share and location of affected cells differ from case to case.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in reaching developmental milestones
- Intellectual disability
- Smaller-than-average head size (microcephaly)
- Delayed speech and language development
- Hole between the lower heart chambers (ventricular septal defect)
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by three copies of chromosome 17 in some, but not all, of the body's cells. GARD says changes in genes (also called variants) cause it.
Also known as: mosaic trisomy 17 syndrome; mosaic trisomy chromosome 17; mosaic trisomy type 17; trisomy 17; trisomy 17 mosaicism
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mosaic trisomy 17.
Explore research for Mosaic trisomy 17
Explore actively recruiting Mosaic trisomy 17 studies with HealthSpark.
Find actively recruiting studies for Mosaic trisomy 17 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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